Primary Identifier | MGI:2685058 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 226781 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium:manganese antiporter activity and zinc ion transmembrane transporter activity. Involved in manganese ion homeostasis. Predicted to be located in Golgi apparatus; endosome membrane; and plasma membrane. Predicted to be active in membrane. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in hypermanganesemia with dystonia 1. Orthologous to human SLC30A10 (solute carrier family 30 member 10). PHENOTYPE: Mice homozygous for a knock-out allele exhibit post-weaning growth defects, increased manganese levels in the brain, blood, liver and thyroid gland, severe hypothyroidism and premature death. [provided by MGI curators] |